High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schroeder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Christoph; Kroisel, Peter M.; Kunstmann, Erdmute; Mair, Martina; Munk-Schulenburg, Susanne; Nikoubashman, Omid; Pauli, Silke; Rudnik-Schöeborn, Sabine; Sudholt, Irene; Sure, Ulrich; Tinschert, Sigrid; Wiednig, Michaela; Zoll, Barbara; Ginsberg, Mark H.; Felbor, Ute

Erstveröffentlichung

2014

Authors

Spiegler, Stefanie

Najm, Juliane

Liu, Jian

Gkalympoudis, Stephanie

Schroeder, Winnie

et al.

Wissenschaftlicher Artikel

Published in

Molecular Genetics & Genomic Medicine ; 2 (2014), 2. - S. 176-185. - ISSN 2324-9269

Link to publication

https://dx.doi.org/10.1002/mgg3.60

Institutions

UKU. Institut für Humangenetik

Subject headings

[Free subject headings]: Age at disease onset | CCM1 | CCM2 | CCM3 | cerebral cavernous malformation | HEG1 | mutation detection rate | predictive testing
[DDC subject group]: DDC 610 / Medicine & health

Metadata

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